Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555386022
rs1555386022
0.708 0.320 14 92003418 splice donor variant C/A snv
CUI: C4072904
Disease: Secondary Caesarian section
Secondary Caesarian section
0.700 0
dbSNP: rs1555386022
rs1555386022
0.708 0.320 14 92003418 splice donor variant C/A snv
CUI: C1866730
Disease: Rhizomelia
Rhizomelia
0.700 0
dbSNP: rs1555386022
rs1555386022
0.708 0.320 14 92003418 splice donor variant C/A snv
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes
0.700 0
dbSNP: rs1555386022
rs1555386022
0.708 0.320 14 92003418 splice donor variant C/A snv
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery
0.700 0
dbSNP: rs1555386022
rs1555386022
0.708 0.320 14 92003418 splice donor variant C/A snv
Hypoplasia involving bones of the upper limbs
0.700 0
dbSNP: rs1555386022
rs1555386022
0.708 0.320 14 92003418 splice donor variant C/A snv
Disproportionate short-limb short stature
0.700 0
dbSNP: rs1555386022
rs1555386022
0.708 0.320 14 92003418 splice donor variant C/A snv
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion
0.700 0
dbSNP: rs1555386022
rs1555386022
0.708 0.320 14 92003418 splice donor variant C/A snv
CUI: C1096086
Disease: Deformity of lower limb
Deformity of lower limb
0.700 0
dbSNP: rs1555386022
rs1555386022
0.708 0.320 14 92003418 splice donor variant C/A snv
Rhizo-meso-acromelic limb shortening
0.700 0
dbSNP: rs1555386022
rs1555386022
0.708 0.320 14 92003418 splice donor variant C/A snv
CUI: C0743924
Disease: Short fetal femur length
Short fetal femur length
0.700 0
dbSNP: rs1555386022
rs1555386022
0.708 0.320 14 92003418 splice donor variant C/A snv
CUI: C0265294
Disease: Pyle metaphyseal dysplasia
Pyle metaphyseal dysplasia
0.700 0
dbSNP: rs1555386022
rs1555386022
0.708 0.320 14 92003418 splice donor variant C/A snv
Spondylometaphyseal dysplasia with dentinogenesis imperfecta
0.700 0
dbSNP: rs1555386022
rs1555386022
0.708 0.320 14 92003418 splice donor variant C/A snv
CUI: C0549306
Disease: Mesomelia
Mesomelia
0.700 0
dbSNP: rs1555386022
rs1555386022
0.708 0.320 14 92003418 splice donor variant C/A snv
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia
0.700 0
dbSNP: rs1555386022
rs1555386022
0.708 0.320 14 92003418 splice donor variant C/A snv
CUI: C4020900
Disease: Abnormality of the upper limb
Abnormality of the upper limb
0.700 0
dbSNP: rs1555386022
rs1555386022
0.708 0.320 14 92003418 splice donor variant C/A snv
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay
0.700 0
dbSNP: rs1555386022
rs1555386022
0.708 0.320 14 92003418 splice donor variant C/A snv
CUI: C4021739
Disease: Abnormality of the acetabulum
Abnormality of the acetabulum
0.700 0
dbSNP: rs1555386022
rs1555386022
0.708 0.320 14 92003418 splice donor variant C/A snv
CUI: C0024003
Disease: Lordosis
Lordosis
0.700 0
dbSNP: rs1555386022
rs1555386022
0.708 0.320 14 92003418 splice donor variant C/A snv
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
0.700 0
dbSNP: rs1555386022
rs1555386022
0.708 0.320 14 92003418 splice donor variant C/A snv
Yellow-brown discoloration of the teeth
0.700 0
dbSNP: rs1555386022
rs1555386022
0.708 0.320 14 92003418 splice donor variant C/A snv
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
0.700 0
dbSNP: rs1555386022
rs1555386022
0.708 0.320 14 92003418 splice donor variant C/A snv
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia
0.700 0
dbSNP: rs1555386022
rs1555386022
0.708 0.320 14 92003418 splice donor variant C/A snv
CUI: C0158986
Disease: Neonatal hypoglycemia
Neonatal hypoglycemia
0.700 0
dbSNP: rs1555386022
rs1555386022
0.708 0.320 14 92003418 splice donor variant C/A snv
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
0.700 0
dbSNP: rs1555386022
rs1555386022
0.708 0.320 14 92003418 splice donor variant C/A snv
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.700 0